Mitochondrial disorders
Gene: NDUFC2
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 12:16 p.m. | Last Modified: 1 Feb 2023, 12:16 p.m.
Panel Version: 3.6
This gene was recently included on a gene list provided by Carl Fratter (Oxford University Hospitals NHS Trust) on behalf of GMS Mitochondrial providers, supporting the Green rating of this gene on Mitochondrial panels (R353 and R63). As there was sufficient supporting evidence for the rating upgrade on those panels, the rating should also be updated to Green on this panel at the next GMS review. Associated with relevant phenotype in OMIM, but not Gen2Phen. At least 2 variants have been reported in two unrelated cases, together with supportive functional evidence (PMID 32969598). There are also 2 families with complex I deficiency with reported by Carl Fratter (review below 10 May 2019).Created: 30 Aug 2022, 9:08 a.m. | Last Modified: 30 Aug 2022, 9:08 a.m.
Panel Version: 2.123
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 36, OMIM: 619170
Publications
no mutation reports in literature; good candidate gene for complex I deficiency (encodes a subunit of the enzyme)Created: 4 Feb 2016, 8:40 p.m.
Tag Q3_22_rating was removed from gene: NDUFC2.
Source NHS GMS was added to NDUFC2. Source Expert Review Green was added to NDUFC2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: NDUFC2 were set to
Phenotypes for gene: NDUFC2 were changed from Isolated complex I deficiency; No OMIM phenotype to Mitochondrial complex I deficiency, nuclear type 36, OMIM:619170
Gene: ndufc2 has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: NDUFC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Tag Q3_22_rating tag was added to gene: NDUFC2.
NDUFC2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen
NDUFC2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list,Radboud University Medical Center, Nijmegen